{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,7,6]],"date-time":"2024-07-06T09:16:29Z","timestamp":1720257389525},"reference-count":22,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":4071,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1994,4,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We present a patient with a de novo inverted duplication of the short arm of chromosome 8. Molecular analysis confirmed the cytogenetic suspicion of a simultaneous deletion of the tip of the short arm and indicated the maternal origin of the abnormality. This deletion made no detectable contribution to the phenotype of the patient which was comparable to that of previous cases of 8p duplication.<\/jats:p><jats:p>Similar investigations of inverted duplications involving other chromosomes may reveal unexpected deletions with significant phenotypic consequences. \u00a9 1994 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320500315","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T17:06:51Z","timestamp":1118509611000},"page":"296-299","source":"Crossref","is-referenced-by-count":16,"title":["Protelomeric sequences are deleted in cases of short arm inverted duplication of chromosome 8"],"prefix":"10.1002","volume":"50","author":[{"given":"John C. K.","family":"Barber","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rowena S.","family":"James","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christine","family":"Patch","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I. Karen","family":"Temple","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,7]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.27.5.327"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1987.tb03335.x"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1985.tb00424.x"},{"key":"e_1_2_1_5_1","first-page":"171","article-title":"Normal phenotype and slight mental retardation in de novo distal 8p deletion (8pter\u21928p23.1:)","volume":"32","author":"Fryns JP","year":"1989","journal-title":"Ann Genet (Paris)"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1991.tb02985.x"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320440517"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(92)90133-D"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.29.6.407"},{"key":"e_1_2_1_10_1","first-page":"207","article-title":"Inverted tandem duplication of the short arm of chromosome 8: A non\u2010random structural aberration in man: Localization of the gene for glutathione reductase in subband 8p21.1","volume":"25","author":"Jensen PKA","year":"1982","journal-title":"Ann Genet"},{"key":"e_1_2_1_11_1","first-page":"668","article-title":"De novo truncation of chromosome 16p and healing with (TTAGGG)n in the \u03b1\u2010thalassemia\/mental retardation syndrome (ATR\u201016)","volume":"52","author":"Lamb J","year":"1993","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01247342"},{"issue":"4","key":"e_1_2_1_13_1","first-page":"286","article-title":"Molecular and biochemical evidence for an interstitial deletion associated with an inverted tandem duplication of the short arm of chromosome 8","volume":"49","author":"Mitchell J","year":"1991","journal-title":"ICHG8. Am J Hum Genet"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.27.2.135"},{"key":"e_1_2_1_15_1","first-page":"1240","article-title":"No significant effect of monosomy for distal 21q22.3 on the Down syndrome phenotype in mirror duplications of chromosome 21","volume":"51","author":"Pangalos C","year":"1992","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1990.tb04189.x"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00221946"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.85.23.9138"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320460310"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0888-7543(05)80297-6"},{"key":"e_1_2_1_21_1","first-page":"388","article-title":"Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction","volume":"44","author":"Weber JL","year":"1989","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_22_1","first-page":"241","article-title":"Duplication\u2010deficiency of the short arm of chromosome 8 following artificial insemination","volume":"19","author":"Weleber RG","year":"1976","journal-title":"Ann Genet"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/346868a0"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320500315","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320500315","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,23]],"date-time":"2023-10-23T23:36:00Z","timestamp":1698104160000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320500315"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1994,4,15]]},"references-count":22,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1994,4,15]]}},"alternative-id":["10.1002\/ajmg.1320500315"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320500315","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1994,4,15]]}}}